We report a familial case of piebaldism affecting a 33-year-old man and his 3-month-old son. Typical skin findings, white forelock and amelanotic white macules containing hyperpigmented macules, were characteristically presented on both patients.

Studies of coat color mutants have greatly contributed to the discovery of genes that regulate melanocyte development and function. Here, we generated Yy1 conditional knockout mice in the melanocyte-lineage and observed profound melanocyte deficiency and premature gray hair, similar to the loss of melanocytes in human piebaldism and Waardenburg syndrome. Although YY1 is a ubiquitous transcripti...

Piebaldism is an autosomal dominant uncommon (<1 in 20,000) congenital pigmentary disorder. Depigmented patches are present since birth. They usually remain unchanged throughout life. Vitiligo is its closest differential diagnosis. We report a unique family in which these two dissimilar depigmentations, i.e. piebaldism and vitiligo (with nevus depigmentosus), were noted in two brothers. T...

Piebaldism, Waardenburg syndrome and Cross-McKusick-Breen syndrome are rare disorders characterized by congenital skin and hair hypopigmentation. Piebaldism is inherited in an autosomal dominant pattern and Waardenburg syndrome is mostly transmitted in an autosomal dominant manner. These diseases are caused by abnormal migration of melanoblasts from the neuroectoderm into the skin. Cross-McKusi...

Considerable attention has recently been paid to the molecular biology, cell biology, and mutations of the mouse Steel (SI) and dominant white spotting (W; c-kit) loci, which respectively encode stem cell (SCF; also referred to as mast cell growth and kit ligand7-9) and its cognate cellular receptor tyrosine kinase.’O Mice with mutations at either of these loci have similar developmental defect...

Anomalous colourations occur in many tropical vertebrates. However, they are considered rare in wild populations, with very few records for the majority of animal taxa. We report two new cases of anomalous colouration in mammals. Additionally, we compiled all published cases about anomalous pigmentation registered in Neotropical mammals, throughout a comprehensive review of peer reviewed articl...